Medical progress is built upon survival stories.
The exceptional survival of Charlotte Lawrence-Slater is the story of a medical breakthrough that has the potential to affect every patient in Australia within a decade.
Ms Lawrence-Slater, an emergency nurse at St Vincent's Hospital in Darlinghurst, was diagnosed with an aggressive cancer of the adrenal gland in April 2014 and not expected to live a year.
She had a seven-year-old son with autism, and she feared more than dying the prospect that he would have to grow up without her.
"It was really terrifying," she said.
"I returned home [from hospital] with the curse of a rare cancer that doesn't have many treatment options, all the while frantically googling this and secretly thinking I didn't have long for this world."
But Ms Lawrence-Slater did have one lucky card in her endocrinologist, Ann McCormack, who had been agitating for the genome sequencing that was occurring next door at the Garvan Institute for Medical Research to be made available to patients at St Vincent's.
The Garvan Institute's Genome.One project was working on a blood test that could map the entire genetic sequence of an individual, which had vast implications for those of Dr McCormack's patients who had limited treatment options.
Since adrenal cancer is rare, there is little commercial incentive for pharmaceutical companies to develop specific drugs for it. But some of the gene mutations could be treated with drugs targeted for other cancers, if only they could be identified.
Ms Lawrence-Slater presented the perfect opportunity to test how quickly the Garvan Institute could turn around a useful result.
"I saw a gap between the clinical avenues, what we could offer, versus the huge technological capacity of the Garvan," Dr McCormack said.
"Adrenal cancer is a very rare cancer and it's very nasty. It has a very low survival rate, particularly the form that she had – it was very large and very aggressive. I thought she may only have months to live."
Within 10 days, the researchers at the Garvan had sequenced the genome of Ms Lawrence-Slater's tumour and identified a set of abnormalities that could be treated by a drug usually used for melanoma.
"It can be a limiting factor, how fast the data can be realised. It was the fastest they've run it so far."
Ms Lawrence-Slater's cancer has not returned but the chances are that it will – and when it does, there will be a treatment waiting for her.
St Vincent's Hospital opened a clinical genomics unit on Wednesday that will now allow the service to be offered to about 20 patients per week.
It is the first integrated counselling and laboratory service in Australia and one of the first in the world, and is at the cutting edge of personalised medicine.
Clinical Genomics Unit founder Jerry Greenfield said the service would give doctors genetic information about their patients for the first time.
"Traditionally, genetic testing has looked at one gene at a time," Professor Greenfield said.
"Genetic sequencing takes this to a whole new level and allows the rapid interrogation of multiple genes or even an entire genome in one hit. It represents a major advance in medical diagnostics and practice, which has the potential to dramatically improve the accuracy with which we deliver healthcare."
"It's one of the major pieces of the puzzle that will enable us as healthcare providers to avoid unnecessary treatments and the side effects associated with those treatments and even to avoid giving medication to a patient that may cause harm."
Minister for Medical Research Pru Goward said the unit would "transform medical practice".
"This is the game changer that we have been waiting for in the delivery of healthcare. The partnership between the Garvan and St Vincent's to establish this service is a watershed moment for healthcare in Australia."
